Table 1.
Families with TRPV4 mutations identified in this study
| Mutation | Amino acid change | Exon | Known phenotypes | Familya | Country of origin | Familial history | Number affected | Additional remarks |
|---|---|---|---|---|---|---|---|---|
| c.694C>T | Arg232Cys | 4 | HMN with vocal fold paralysis, SPSMA, HMSN2 | CMT-455 | UK | AD | 3 | One unaffected mutation carrier (CMT-455), new mutation. CMT-455 and CMT-1100 share the same haplotype (Table 2) |
| CMT-456 | Switzerland | AD | 4 | |||||
| CMT-1100 | UK | AD | 2 | |||||
| c.805C>T | Arg269Cys | 5 | HMSN2C, SPSMA, congenital distal SMA | CMT-858 | Spain | AD | 2 | Three unaffected mutation carriers. |
| F1 | USA | AD | 7 | Two unaffected mutations carriers. | ||||
| c.806G>A | Arg269His | 5 | HMSN2C, SPSMA, congenital distal SMA | CMT-165 | Italy | AD | 3 | |
| c.943C>T | Arg315Trp | 6 | HMSN2C, SPSMA, congenital distal SMA | CMT-149 | UK | AD | 5 | |
| c.1858G>A | Val620Ile | 12 | HMSN2, autosomal dominant brachyolmia | PN-1394 | Croatia | IC | 1 |
AD = autosomal dominant; IC = isolated case; SPSMA = scapuloperoneal spinal muscular atrophy.
a: This study.